LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370433088
rs370433088
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0349588
Disease:
Short stature
T 0.700 GeneticVariation CLINVAR
dbSNP: rs756101090
rs756101090
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C1305904
Disease:
Familial hematuria
A 0.700 CausalMutation CLINVAR
dbSNP: rs766464011
rs766464011
Entrez Id: 3911;100616340
Gene Symbol: LAMA5;MIR4758
LAMA5;MIR4758
CUI: C0349588
Disease:
Short stature
T 0.700 GeneticVariation CLINVAR
dbSNP: rs773956500
rs773956500
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0349588
Disease:
Short stature
C 0.700 GeneticVariation CLINVAR
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0009402
Disease:
Colorectal Carcinoma
C 0.830 GeneticVariation GWASDB We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰). 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0009402
Disease:
Colorectal Carcinoma
C 0.830 GeneticVariation GWASCAT We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰). 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0009402
Disease:
Colorectal Carcinoma
0.830 GeneticVariation BEFREE We identified associations at four new CRC risk loci: 1q41 (rs6691170, odds ratio (OR) = 1.06, P = 9.55 × 10⁻¹⁰ and rs6687758, OR = 1.09, P = 2.27 × 10⁻⁹, 3q26.2 (rs10936599, OR = 0.93, P = 3.39 × 10⁻⁸), 12q13.13 (rs11169552, OR = 0.92, P = 1.89 × 10⁻¹⁰ and rs7136702, OR = 1.06, P = 4.02 × 10⁻⁸) and 20q13.33 (rs4925386, OR = 0.93, P = 1.89 × 10⁻¹⁰). 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0346629
Disease:
Malignant neoplasm of large intestine
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0007102
Disease:
Malignant tumor of colon
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C1319315
Disease:
Adenocarcinoma of large intestine
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0009404
Disease:
Colorectal Neoplasms
C 0.700 GeneticVariation GWASCAT Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. 20972440 2010
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0009373
Disease:
Colonic Diseases
0.010 GeneticVariation BEFREE Several loci showed statistically significant associations with specific phenotypes notably rs6691170 and rs3802842 associated with microsatellite stable rectal disease; rs4779584, rs961253 and rs4813802 associated with microsatellite stable colonic disease and rs4444235 and rs4925386 with microsatellite instability colonic disease. 22045029 2012
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0001430
Disease:
Adenoma
0.010 GeneticVariation BEFREE Ten other CRC-associated SNPs (rs6691170, rs6687758, rs16892766, rs7136702, rs11169552, rs4779584, rs9929218, rs10411210, rs4813802, and rs4925386) were not associated significantly with adenoma risk. 22999960 2013
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0009402
Disease:
Colorectal Carcinoma
0.830 GeneticVariation BEFREE Notably, two independent meta-analyses of genome-wide association studies found the C-allele of LAMA5 rs4925386-C/T correlated with the risk of colorectal cancer. 26968355 2016
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The association of LAMA5 rs4925386 alleles with both inter-individual differences in height and in longevity suggests that laminins may be among the factors linking stature and cancer susceptibility. 26968355 2016
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The association of LAMA5 rs4925386 alleles with both inter-individual differences in height and in longevity suggests that laminins may be among the factors linking stature and cancer susceptibility. 26968355 2016
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Notably, two independent meta-analyses of genome-wide association studies found the C-allele of LAMA5 rs4925386-C/T correlated with the risk of colorectal cancer. 26968355 2016
dbSNP: rs369572769
rs369572769
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0020676
Disease:
Hypothyroidism
0.010 GeneticVariation BEFREE The heterozygous <i>LAMA5</i> mutation c.9418G>A (p.V3140M) was associated with skin anomalies, impaired scarring, night blindness, muscle weakness, osteoarthritis, joint and internal organs ligaments laxity, malabsorption syndrome and hypothyroidism. 28735299 2017
dbSNP: rs369572769
rs369572769
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0028077
Disease:
Nyctalopia
0.010 GeneticVariation BEFREE The heterozygous <i>LAMA5</i> mutation c.9418G>A (p.V3140M) was associated with skin anomalies, impaired scarring, night blindness, muscle weakness, osteoarthritis, joint and internal organs ligaments laxity, malabsorption syndrome and hypothyroidism. 28735299 2017
dbSNP: rs4925386
rs4925386
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C0009402
Disease:
Colorectal Carcinoma
0.830 GeneticVariation BEFREE For SNPs on 18q21 (rs12953717 and rs4464148) and 20q13 (rs4925386), alleles that correlate with higher risk for the development of CRC are associated with shorter disease free survival (DFS). 29119627 2018
dbSNP: rs62199218
rs62199218
Entrez Id: 3911
Gene Symbol: LAMA5
LAMA5
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018